Chiari malformation: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Chiari malformation: clinical features. There may be familial clustering of Chiari malformation. Fully referenced neurology checklist.
Genetics
- There may be familial clustering of Chiari malformation
- There is a rare association with chromodomain gene mutations
Classification
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Risk factors
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Headache features
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Brainstem features
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Cranial nerve disorders
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Spinal cord features of syringomyelia
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Ophthalmic features
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Sleep disorders
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Peripheral features
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Movement disorders
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Other features
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Features of raised intracranial pressure (ICP)
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Exacerbating factors
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Clinical outcome measures
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Indicators of non-resolution of syringomyelia
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References
- Fernandez AA, Guerrero AI, Martinez MI, et al. Malformations of the craniocervical junction (chiari type 1 and syringomyelia: classification, diagnosis and treatment). BMC Musculoskeletal Disorders 2009; 10(Suppl 1):S1.
- Bejjani GK, Cockerham KP. Adult Chiari malformation. Contemp Neurosurg 2001; 23:1-7.
- Massimi L, Peretta P, Erbetta A, et al. Diagnosis and treatment of Chiari malformation type 1 in children: The International Consensus Document. Neurol Sci 2022; 43:1311-1326.
- Abbott D, Brockmeyer D, Neklason DW, Teerlink C, Cannon-Albright LA. Population-based description of familial clustering of Chiari malformation Type I. J Neurosurg 2018; 128:460-465.
- Schanker BD, Walcott BP, Nahed BV, Kahle KT, Li YM, Coumans JV. Familial Chiari malformation: case series. Neurosurg Focus 2011; 31:E1.
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